Canonical Allele Identifier: CA460846434
Gene: CHD7 HGNC NCBI

Linked Data

gnomAD v3: 8-60860960-A-G
gnomAD v4: 8-60860960-A-G
MyVariant Identifiers: chr8:g.61773519A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860960A>G , CM000670.2:g.60860960A>G GRCh38
NC_000008.10:g.61773519A>G , CM000670.1:g.61773519A>G GRCh37
NC_000008.9:g.61936073A>G NCBI36
NG_007009.1:g.187181A>G , LRG_176:g.187181A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.841A>G
ENST00000695851.1:n.45A>G
ENST00000695853.1:c.*724A>G ENSP00000512218.1:n.*724A>G
ENST00000423902.7:c.7665A>G MANE Select ENSP00000392028.1:p.Arg2555=
ENST00000423902.6:c.7665A>G ENSP00000392028.1:p.Arg2555=
ENST00000524602.5:c.1717-1269A>G ENSP00000437061.1:n.1717-1269A>G
ENST00000531695.1:n.89A>G
ENST00000618450.1:n.57A>G
NM_001316690.1:c.1717-1269A>G NP_001303619.1:n.1717-1269A>G
NM_017780.3:c.7665A>G NP_060250.2:p.Arg2555=
XM_011517553.1:c.7755A>G XP_011515855.1:p.Arg2585=
XM_011517554.1:c.7755A>G XP_011515856.1:p.Arg2585=
XM_011517555.1:c.7752A>G XP_011515857.1:p.Arg2584=
XM_011517556.1:c.7699-1236A>G XP_011515858.1:n.7699-1236A>G
XM_011517557.1:c.5742A>G XP_011515859.1:p.Arg1914=
XM_011517558.1:c.5292A>G XP_011515860.1:p.Arg1764=
XM_011517559.1:c.4500A>G XP_011515861.1:p.Arg1500=
XM_011517553.2:c.7755A>G XP_011515855.1:p.Arg2585=
XM_011517554.3:c.7755A>G XP_011515856.1:p.Arg2585=
XM_011517555.2:c.7752A>G XP_011515857.1:p.Arg2584=
XM_017013612.1:c.7755A>G XP_016869101.1:p.Arg2585=
XM_017013613.1:c.7662A>G XP_016869102.1:p.Arg2554=
NM_017780.4:c.7665A>G MANE Select NP_060250.2:p.Arg2555=